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Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl

A 7-year-old girl presented with progressive walking difficulties, spasticity, and cognitive decline with onset at 3 years of age. No seizures, vision, or hearing impairment were reported. The magnetic resonance imaging of the brain revealed cerebellar atrophy and evidence of iron deposition in the...

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Detalles Bibliográficos
Autores principales: Jain, Sakshi, Bhasin, Himani, Romani, Marta, valente, Enza maria, Sharma, Suvasini
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712922/
https://www.ncbi.nlm.nih.gov/pubmed/31516627
http://dx.doi.org/10.4103/jpn.JPN_91_18
Descripción
Sumario:A 7-year-old girl presented with progressive walking difficulties, spasticity, and cognitive decline with onset at 3 years of age. No seizures, vision, or hearing impairment were reported. The magnetic resonance imaging of the brain revealed cerebellar atrophy and evidence of iron deposition in the globi pallidi and substantia nigra. The clinico-radiological profile was suggestive of atypical childhood-onset neuroaxonal dystrophy. The patient was found to have compound heterozygous mutations in the PLA2G6 gene confirming the diagnosis.